C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases

Meagan Shinbashi; Ann Jewell; Jessica Randolph; Natario Couser

doi:10.1002/ccr3.7110

Clinical Case Reports (Mar 2023)

C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases

Meagan Shinbashi,
Ann Jewell,
Jessica Randolph,
Natario Couser

Affiliations

Meagan Shinbashi: Virginia Commonwealth University School of Medicine Virginia Richmond USA
Ann Jewell: Department of Human and Molecular Genetics Virginia Commonwealth University School of Medicine Virginia Richmond USA
Jessica Randolph: Department of Human and Molecular Genetics Virginia Commonwealth University School of Medicine Virginia Richmond USA
Natario Couser: Department of Human and Molecular Genetics Virginia Commonwealth University School of Medicine Virginia Richmond USA

DOI: https://doi.org/10.1002/ccr3.7110
Journal volume & issue: Vol. 11, no. 3
pp. n/a – n/a

Abstract

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Abstract Variants in the C21orf2 (CFAP410) gene have recently been associated with the development of retinitis pigmentosa, an inherited condition characterized by degeneration of the retina. In this article, we describe 34 previously reported cases of C21orf2 variant‐associated retinopathies and present two new suspected cases.

Published in Clinical Case Reports

ISSN: 2050-0904 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Medicine (General)
Website: https://onlinelibrary.wiley.com/journal/20500904

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Abstract

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